Incidental Mutation 'R3923:Cast'
| ID |
307056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cast
|
| Ensembl Gene |
ENSMUSG00000021585 |
| Gene Name |
calpastatin |
| Synonyms |
|
| MMRRC Submission |
040820-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3923 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
74840487-74956929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74876532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 447
(E447G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065629]
[ENSMUST00000220738]
[ENSMUST00000222588]
[ENSMUST00000223033]
[ENSMUST00000223126]
[ENSMUST00000223309]
[ENSMUST00000223206]
[ENSMUST00000231578]
|
| AlphaFold |
P51125 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065629
AA Change: E413G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: E413G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calpain_inhib
|
15 |
272 |
8.1e-9 |
PFAM |
|
Pfam:Calpain_inhib
|
279 |
404 |
2.7e-36 |
PFAM |
|
Pfam:Calpain_inhib
|
415 |
544 |
3.6e-38 |
PFAM |
|
Pfam:Calpain_inhib
|
556 |
684 |
4.5e-36 |
PFAM |
|
low complexity region
|
708 |
744 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220738
AA Change: E105G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222373
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222588
AA Change: E345G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223033
AA Change: E364G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223126
AA Change: E345G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223309
AA Change: E90G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223206
AA Change: E447G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231578
AA Change: E428G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an inhibitor of the calcium-dependent cysteine protease, calpain. This protein plays roles in multiple processes, including apoptosis, cell cycle regulation, and membrane fusion. Multiple protein isoforms exist which contain unique N-terminal domains, and multiple inhibitory domains that share homology with each other. Some isoforms may be tissue-specific. Two different pseudogenes of this gene are found on chromosome 19. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knockout allele exhibit augmented DNA fragmentation in CA1 pyramidal neurons following excitotoxic kainate treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,180,514 (GRCm39) |
M528V |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,601,304 (GRCm39) |
Y318F |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,427,871 (GRCm39) |
D132E |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,774,069 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
T |
C |
8: 46,395,426 (GRCm39) |
I439T |
probably damaging |
Het |
| Ccdc50 |
A |
T |
16: 27,263,294 (GRCm39) |
R264S |
probably damaging |
Het |
| Cdhr18 |
T |
A |
14: 13,865,990 (GRCm38) |
K300* |
probably null |
Het |
| Chd9 |
T |
A |
8: 91,660,147 (GRCm39) |
V369E |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
| Col4a1 |
T |
A |
8: 11,251,665 (GRCm39) |
|
probably benign |
Het |
| Crtac1 |
A |
G |
19: 42,322,386 (GRCm39) |
V118A |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dipk1c |
A |
T |
18: 84,748,812 (GRCm39) |
T137S |
probably damaging |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
A |
T |
2: 24,774,347 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
A |
4: 139,090,496 (GRCm39) |
L412* |
probably null |
Het |
| Ep400 |
T |
C |
5: 110,904,389 (GRCm39) |
N70S |
possibly damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,018,549 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,336,814 (GRCm39) |
V1395A |
probably benign |
Het |
| Gps1 |
A |
G |
11: 120,677,259 (GRCm39) |
N186S |
possibly damaging |
Het |
| Hdgf |
T |
A |
3: 87,821,535 (GRCm39) |
D128E |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,301,107 (GRCm39) |
S362P |
probably damaging |
Het |
| Hypk |
C |
A |
2: 121,288,683 (GRCm39) |
H116Q |
possibly damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
| Itgae |
A |
C |
11: 73,006,969 (GRCm39) |
D405A |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,945,045 (GRCm39) |
S589P |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,358,625 (GRCm39) |
S223P |
probably benign |
Het |
| Kif21a |
C |
T |
15: 90,821,497 (GRCm39) |
S1432N |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Lrrn2 |
A |
G |
1: 132,866,230 (GRCm39) |
S432G |
probably benign |
Het |
| Mlana |
T |
A |
19: 29,682,098 (GRCm39) |
S50R |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,149 (GRCm39) |
H4383Q |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,216,442 (GRCm39) |
S1469P |
probably damaging |
Het |
| Nol6 |
G |
T |
4: 41,121,531 (GRCm39) |
F270L |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,137,382 (GRCm39) |
M431K |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,368,688 (GRCm39) |
I243V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,951,754 (GRCm39) |
I4297V |
possibly damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or8k23 |
T |
C |
2: 86,186,205 (GRCm39) |
I174V |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,716,583 (GRCm39) |
|
probably null |
Het |
| Plod1 |
T |
C |
4: 148,000,280 (GRCm39) |
K260E |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,679,876 (GRCm39) |
|
probably null |
Het |
| Rpe65 |
T |
A |
3: 159,310,037 (GRCm39) |
F103L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,672,218 (GRCm39) |
A1438T |
possibly damaging |
Het |
| Slc17a3 |
G |
A |
13: 24,042,037 (GRCm39) |
V402M |
possibly damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Snph |
C |
T |
2: 151,435,431 (GRCm39) |
C430Y |
probably damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,167,510 (GRCm39) |
I1101V |
probably benign |
Het |
| Tatdn1 |
G |
A |
15: 58,793,020 (GRCm39) |
L120F |
possibly damaging |
Het |
| Trav3-3 |
A |
G |
14: 53,903,828 (GRCm39) |
K49E |
probably benign |
Het |
| Trpv5 |
T |
C |
6: 41,630,183 (GRCm39) |
T636A |
probably benign |
Het |
| Ube2l6 |
A |
G |
2: 84,639,418 (GRCm39) |
D127G |
possibly damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,428 (GRCm39) |
|
probably null |
Het |
| Usp53 |
A |
T |
3: 122,727,954 (GRCm39) |
F876Y |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,223 (GRCm39) |
I316K |
probably benign |
Het |
| Zfp106 |
G |
T |
2: 120,365,337 (GRCm39) |
Q357K |
probably damaging |
Het |
| Zfp143 |
T |
C |
7: 109,673,398 (GRCm39) |
V138A |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,818,126 (GRCm39) |
R118G |
probably null |
Het |
|
| Other mutations in Cast |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Cast
|
APN |
13 |
74,885,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01363:Cast
|
APN |
13 |
74,852,311 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01404:Cast
|
APN |
13 |
74,886,406 (GRCm39) |
nonsense |
probably null |
|
|
IGL01893:Cast
|
APN |
13 |
74,875,408 (GRCm39) |
nonsense |
probably null |
|
|
IGL02139:Cast
|
APN |
13 |
74,876,484 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02444:Cast
|
APN |
13 |
74,887,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02927:Cast
|
APN |
13 |
74,885,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Cast
|
APN |
13 |
74,848,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Cast
|
UTSW |
13 |
74,884,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0583:Cast
|
UTSW |
13 |
74,861,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2031:Cast
|
UTSW |
13 |
74,946,771 (GRCm39) |
splice site |
probably null |
|
|
R2256:Cast
|
UTSW |
13 |
74,888,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2509:Cast
|
UTSW |
13 |
74,885,735 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4116:Cast
|
UTSW |
13 |
74,872,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Cast
|
UTSW |
13 |
74,894,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4651:Cast
|
UTSW |
13 |
74,894,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4652:Cast
|
UTSW |
13 |
74,894,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4653:Cast
|
UTSW |
13 |
74,894,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4714:Cast
|
UTSW |
13 |
74,946,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Cast
|
UTSW |
13 |
74,894,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cast
|
UTSW |
13 |
74,887,999 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4974:Cast
|
UTSW |
13 |
74,955,942 (GRCm39) |
missense |
probably benign |
|
|
R5040:Cast
|
UTSW |
13 |
74,872,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5397:Cast
|
UTSW |
13 |
74,869,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5556:Cast
|
UTSW |
13 |
74,844,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5863:Cast
|
UTSW |
13 |
74,884,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Cast
|
UTSW |
13 |
74,844,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6030:Cast
|
UTSW |
13 |
74,844,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6349:Cast
|
UTSW |
13 |
74,869,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Cast
|
UTSW |
13 |
74,847,277 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6829:Cast
|
UTSW |
13 |
74,876,463 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6848:Cast
|
UTSW |
13 |
74,844,052 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7275:Cast
|
UTSW |
13 |
74,875,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7401:Cast
|
UTSW |
13 |
74,956,577 (GRCm39) |
missense |
unknown |
|
|
R7408:Cast
|
UTSW |
13 |
74,887,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7602:Cast
|
UTSW |
13 |
74,885,084 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8032:Cast
|
UTSW |
13 |
74,883,360 (GRCm39) |
nonsense |
probably null |
|
|
R8499:Cast
|
UTSW |
13 |
74,946,835 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8544:Cast
|
UTSW |
13 |
74,882,177 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8557:Cast
|
UTSW |
13 |
74,852,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Cast
|
UTSW |
13 |
74,892,780 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0011:Cast
|
UTSW |
13 |
74,873,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Cast
|
UTSW |
13 |
74,885,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cast
|
UTSW |
13 |
74,873,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATTTCTGGGCTGAGAAGTG -3'
(R):5'- AAAATATTTGGCTGTCCCACAG -3'
Sequencing Primer
(F):5'- GTGTGACAATTTTATTTAACTCTCCC -3'
(R):5'- CACAGTGCTAAGGTCCAGTATTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation